RGD:14734388 Rat Genome Database

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Variant: RGD:14734388 -  Homo sapiens

RGD ID: 14734388
RS ID: rs112596718
ClinVar ID: CV656899
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL11A1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 103,481,524
GRCh38 1 103,015,968
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001190709.2:c.1297-226A>G
NM_080630.4:c.1066-226A>G
NM_001854.4:c.1414-226A>G
NG_008033.2:g.97529A>G
More... 		06/14/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:COL11A1
Accession:XM_017000337
Location:5UTRS;INTRON

Gene Symbol:COL11A1
Accession:NM_001854
Location:INTRON

Gene Symbol:COL11A1
Accession:NM_001190709
Location:INTRON

Gene Symbol:COL11A1
Accession:XM_017000334
Location:INTRON

Gene Symbol:COL11A1
Accession:XM_017000335
Location:INTRON

Gene Symbol:COL11A1
Accession:NM_080629
Location:INTRON

Gene Symbol:COL11A1
Accession:XM_017000336
Location:INTRON

Gene Symbol:COL11A1
Accession:NM_080630
Location:INTRON

Gene Symbol:COL11A1
Accession:NR_134980
Location:INTRON;NON-CODING

Gene Symbol:COL11A1
Accession:XR_007085257
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000837532 CLINVAR
dbSNP (RS) rs112596718 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene COL11A1 CLINVAR
OMIM 120280 CLINVAR